| Chr | Mutation (hg38) | CAid | Gene | Transcript | Linkouts |
|---|---|---|---|---|---|
| X | g.154533122C>T | CA120988 | G6PD | c.871G>A (p.Val291Met) c.874G>A (p.Val292Met) c.734G>A c.737G>A c.723G>A (p.Arg241=) c.865-320G>A (n.865-320G>A) c.*331G>A (n.*331G>A) c.878G>A (p.Gly293Asp) c.*713G>A (n.*713G>A) c.1009G>A (p.Val337Met) c.961G>A (p.Val321Met) c.964G>A (p.Val322Met) c.958-320G>A (n.958-320G>A) | ClinVar dbSNP ExAC gnomAD v2 gnomAD v3 gnomAD v4 |
| X | g.154533122C= | CA2466723625 | G6PD | c.871G= (p.Val291=) c.874G= (p.Val292=) c.734G= c.737G= c.723G= (p.Arg241=) c.865-320G= (n.865-320G=) c.*331G= (n.*331G=) c.878G= (p.Gly293=) c.*713G= (n.*713G=) c.1009G= (p.Val337=) c.961G= (p.Val321=) c.964G= (p.Val322=) c.958-320G= (n.958-320G=) | dbSNP |
| X | g.154533122C>A | CA415234948 | G6PD | c.871G>T (p.Val291Leu) c.874G>T (p.Val292Leu) c.734G>T c.737G>T c.723G>T (p.Arg241Ser) c.865-320G>T (n.865-320G>T) c.*331G>T (n.*331G>T) c.878G>T (p.Gly293Val) c.*713G>T (n.*713G>T) c.1009G>T (p.Val337Leu) c.961G>T (p.Val321Leu) c.964G>T (p.Val322Leu) c.958-320G>T (n.958-320G>T) | dbSNP gnomAD v4 |